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Mucopolysaccharidosis Type II: A Kenyan Case Series
L N Wainaina Mungai1, C M Njeru1, L A Nyamai2
1University of Nairobi, Nairobi, Kenya.
International Journal of Endocrinology
|January 3, 2022
Summary
Hunter syndrome (MPS2) cases exist in Kenya, with affected boys often dying before diagnosis due to lack of metabolic disease screening. This study highlights the need for increased awareness and diagnostic capabilities.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Hunter syndrome (mucopolysaccharidosis type 2, MPS2) is a rare genetic disorder.
- It results from glycosaminoglycan accumulation, causing multi-organ dysfunction.
- Lack of metabolic disease screening in Kenya may lead to underdiagnosis.
Purpose of the Study:
- To report the existence of Hunter syndrome cases in Kenya.
- To highlight diagnostic challenges and potential underdiagnosis in the Kenyan population.
- To underscore the need for improved diagnostic services for metabolic disorders.
Main Methods:
- Retrospective case series of 6 boys with MPS2.
- Analysis of blood samples from 17 patients for metabolic diseases.
- Enzyme assays for iduronate-2-sulfatase (I2S) and genetic mutation analysis of the IDS gene.
Main Results:
- Six Kenyan boys diagnosed with Hunter syndrome (MPS2).
- All patients exhibited symptoms, including central nervous system involvement.
- Undetectable I2S enzyme levels and three novel IDS gene mutations were identified.
Conclusions:
- Hunter syndrome occurs in Kenya, despite a lack of specific diagnostic facilities.
- Early diagnosis is crucial, as many cases may go unrecognized, leading to high mortality.
- Further research and improved screening are essential for managing MPS2 in Kenya.
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